Variant report

Variant	rs73403312
Chromosome Location	chr7:100024153-100024154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99997991..100000761-chr7:100021561..100024179,2	K562	blood:
2	chr7:100023646..100028399-chr7:100166149..100169452,5	K562	blood:
3	chr7:99754046..99756900-chr7:100023826..100027525,3	MCF-7	breast:
4	chr7:100016949..100019484-chr7:100023454..100025888,2	MCF-7	breast:
5	chr7:99679133..99681399-chr7:100023910..100026674,3	K562	blood:
6	chr7:100022010..100030260-chr7:100068697..100082544,31	K562	blood:

Variant related genes	Relation type
ENSG00000166925	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000266154	Chromatin interaction
ENSG00000184414	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000166526	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 42 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1000215	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1073	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11761725	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11761784	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11763414	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11764818	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11766752	0.81[EUR][1000 genomes]
rs11769886	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11771241	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11771419	0.85[EUR][1000 genomes]
rs11773661	0.81[EUR][1000 genomes]
rs1962269	0.81[EUR][1000 genomes]
rs2003507	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2406255	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28490152	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28578163	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28629346	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28660238	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35111986	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3900792	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4074838	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4472444	0.81[EUR][1000 genomes]
rs4989959	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60257855	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66632384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66958101	0.81[EUR][1000 genomes]
rs67163493	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67196635	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67239991	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67315960	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67471932	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67483801	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68116612	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6953749	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6955362	0.82[EUR][1000 genomes]
rs6957928	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6962151	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6970806	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6970828	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6975514	0.82[EUR][1000 genomes]
rs6975729	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73161759	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73161762	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7783159	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7783550	0.85[EUR][1000 genomes]
rs7792959	0.86[ASN][1000 genomes]
rs7794485	0.81[EUR][1000 genomes]
rs7799901	0.86[ASN][1000 genomes]
rs7800667	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7803454	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7809801	0.81[EUR][1000 genomes]
rs7811142	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv527107	chr7:100014711-100064719	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	269 gene(s)	inside rSNPs	diseases
5	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
6	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
7	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
8	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
9	esv3329388	chr7:100023441-100025989	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	88 gene(s)	inside rSNPs	diseases
10	esv3330521	chr7:100023666-100025889	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	72 gene(s)	inside rSNPs	diseases
11	esv3340427	chr7:100024116-100025464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:42)

SNP	Gene	Cis/trans	Tissue	Source
rs73403312	STAG3L5P	cis	Nerve Tibial	GTEx
rs73403312	STAG3L5P	cis	Adipose Subcutaneous	GTEx
rs73403312	PILRB	cis	Artery Tibial	GTEx
rs73403312	PILRB	cis	lung	GTEx
rs73403312	STAG3L5P	cis	Skin Sun Exposed Lower leg	GTEx
rs73403312	PILRA	cis	Artery Aorta	GTEx
rs73403312	STAG3L5P	cis	lung	GTEx
rs73403312	PMS2P1	cis	Thyroid	GTEx
rs73403312	STAG3L5P	cis	Artery Aorta	GTEx
rs73403312	PILRB	cis	Whole Blood	GTEx
rs73403312	PVRIG2P	cis	lung	GTEx
rs73403312	STAG3L5P	cis	Muscle Skeletal	GTEx
rs73403312	STAG3L5P	cis	Artery Tibial	GTEx
rs73403312	PILRA	cis	Thyroid	GTEx
rs73403312	STAG3L5P	cis	Thyroid	GTEx
rs73403312	PILRA	cis	Stomach	GTEx
rs73403312	PILRA	cis	Esophagus Mucosa	GTEx
rs73403312	PILRB	cis	Thyroid	GTEx
rs73403312	PVRIG2P	cis	Artery Tibial	GTEx
rs73403312	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs73403312	PILRA	cis	Heart Left Ventricle	GTEx
rs73403312	STAG3L5P	cis	Heart Left Ventricle	GTEx
rs73403312	STAG3L5P	cis	Stomach	GTEx
rs73403312	PILRA	cis	Nerve Tibial	GTEx
rs73403312	STAG3L5P	cis	Esophagus Mucosa	GTEx
rs73403312	PILRB	cis	Esophagus Muscularis	GTEx
rs73403312	PILRB	cis	Muscle Skeletal	GTEx
rs73403312	PILRB	cis	Heart Left Ventricle	GTEx
rs73403312	PILRB	cis	Adipose Subcutaneous	GTEx
rs73403312	PILRB	cis	Nerve Tibial	GTEx
rs73403312	PILRB	cis	Esophagus Mucosa	GTEx
rs73403312	PILRB	cis	Artery Aorta	GTEx
rs73403312	PVRIG2P	cis	Nerve Tibial	GTEx
rs73403312	PILRA	cis	Adipose Subcutaneous	GTEx
rs73403312	PILRA	cis	Esophagus Muscularis	GTEx
rs73403312	PILRA	cis	Muscle Skeletal	GTEx
rs73403312	PVRIG2P	cis	Thyroid	GTEx
rs73403312	PVRIG2P	cis	Adipose Subcutaneous	GTEx
rs73403312	PVRIG2P	cis	Esophagus Mucosa	GTEx
rs73403312	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs73403312	PILRA	cis	Artery Tibial	GTEx
rs73403312	STAG3L5P	cis	Esophagus Muscularis	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99987800-100025400	Weak transcription	Right Ventricle	heart
2	chr7:99995000-100025400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:99995000-100026000	Weak transcription	Primary T cells from cord blood	blood
4	chr7:99996200-100025400	Weak transcription	Brain Substantia Nigra	brain
5	chr7:99997400-100025600	Weak transcription	Aorta	Aorta
6	chr7:99998800-100025400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:99999000-100025400	Weak transcription	Left Ventricle	heart
8	chr7:99999400-100025400	Weak transcription	Psoas Muscle	Psoas
9	chr7:100000200-100025400	Weak transcription	Liver	Liver
10	chr7:100002800-100025400	Weak transcription	Brain Anterior Caudate	brain
11	chr7:100005400-100024800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr7:100011600-100026000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:100011800-100025400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:100011800-100025400	Weak transcription	Primary B cells from cord blood	blood
15	chr7:100011800-100025400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:100011800-100025400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:100015000-100025400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:100015000-100025400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:100017000-100025400	Weak transcription	Brain Angular Gyrus	brain
20	chr7:100017400-100025400	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:100017600-100025600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:100017800-100025200	Weak transcription	Osteobl	bone
23	chr7:100017800-100025400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:100017800-100025400	Weak transcription	Adipose Nuclei	Adipose
25	chr7:100017800-100025600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr7:100018000-100025400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:100018200-100025400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:100019000-100025400	Weak transcription	Fetal Brain Male	brain
29	chr7:100019200-100025400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:100019600-100025400	Weak transcription	HSMMtube	muscle
31	chr7:100020400-100025600	Weak transcription	Fetal Lung	lung
32	chr7:100020600-100025400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:100020600-100025400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:100021000-100025400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:100021200-100025400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:100021400-100024200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:100021800-100025200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:100022000-100025400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:100022000-100025400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:100022200-100025600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:100023200-100025400	Weak transcription	GM12878-XiMat	blood

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